Canonical Allele Identifier: CA360767543
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357394A>T , CM000667.2:g.128357394A>T GRCh38
NC_000005.9:g.127693086A>T , CM000667.1:g.127693086A>T GRCh37
NC_000005.8:g.127720985A>T NCBI36
NG_008750.1:g.185650T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2556T>A MANE Select ENSP00000262464.4:p.Asp852Glu
ENST00000262464.8:c.2556T>A ENSP00000262464.4:p.Asp852Glu
ENST00000508053.5:c.2556T>A ENSP00000424571.1:p.Asp852Glu
ENST00000508989.5:c.2457T>A ENSP00000425596.1:p.Asp819Glu
ENST00000619499.4:c.2553T>A ENSP00000482132.1:p.Asp851Glu
NM_001999.3:c.2556T>A NP_001990.2:p.Asp852Glu
XM_017009228.2:c.2403T>A XP_016864717.1:p.Asp801Glu
NM_001999.4:c.2556T>A MANE Select NP_001990.2:p.Asp852Glu